I Know What I Am

i'm a mutant.

after years of various pains, i finally have a diagnosis: ehlers-danlos syndrome.

not entirely unexpected but still a little surprising. a rheumatologist told me that i was hypermobile last year. i eventually got an appointment down in London last week with professor Rodney Grahame of university college hospital.

the professor spent over an hour with me! Bulbgirl, who accompanied me down south, said that a couple of people in the waiting room were annoyed at the delay. as i had come down from Glasgow the prof must have spent a little extra time with me.

are you aware that there is a hypermobility clinic in Glasgow? he asked me. i'd heard rumour of a pain clinic, but one would have imagined that the rheumatologist i'd seen might have mentioned this little fact. i'm still glad we went down to London and that the leading doctor in this disorder gave me the diagnosis.

even all the experts don't agree. some call it JHS (joint hypermobility syndrome), BJHS (benign joint hypermobility syndrome), EDS, HEDS, HMS, EDS3. it gets all very confusing.

wiki ehlers-danlos sydrome. hypermobility (type 3)

Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant; it is the only type of EDS that cannot be diagnosed through skin / tissue samples but is rather diagnosed through use of clinical observations. Symptoms can include easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints. Joint dislocations and subluxations are common. Degenerative joint disease can occur; the pain associated with this condition is a serious complication. Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse.

when telling professor Grahame that my rheumatologist put me on the list for genetic testing, he said but there isn't a genetic test for your type yet. he knew his stuff far more than anyone i've met up until now. i could have talked to him all day.

i love the X-men movies. it's a little unfair that my special mutant power is chronic pain. adamantium claws, or being able to control the weather would be much more fun.

My Gargoyle Wings

here is a pic of my gargoyle wings. they protrude more than your average human's. imagine a cat walking along, how it's shoulder bladers slink in an out. mine can do that.


everyone's shoulder area moves to some extent, but these scapula of mine just go a little further than most. now only if they were useful and could grow a little more then i could glide on a windy day, an inbuilt gliding system if you will.

unfortunately the downside to having joint hypermobility, what the rheumatologist thinks i have, is the pain. lately everything seems to hurt, not enough to stop me getting about, but just enough to stop me enjoy getting about. an area of my left ribs has been threatening to pop or move out of place but hopefully it won't as it did before.

having always been a flexible kid i didn't think too much of the little niggling pains that plagued me day to day, but getting older (31 now) everything is getting a bit more pronounced. even if the wrists do get too sore to hold things in the future i'm sure the last thing that will be prised from my grip will be a flashlight. :)

Joint Hypermobility

went to the hospital on monday. my appointment was in the rheumatology department. the visit was pretty short and the doc thinks she knows what i've got. she doesn't think i have fibromyalgia, but

a classic case of joint hypermobility.

this sounds quite cool, like i can move really fast. afraid not, bulbboy is closer to rather than stretchy boy rather than the flash. stripping down to my undies, she checked my bodkin over and found my joints to be all pretty loose. she added "aren't they?" she quickly added that it was a bit of a silly question as

these have been the only joints that you've ever had.

in the past my joints have tended to be a bit more supple than most. never quite managing the splits but other areas freak people out. not just the clicking but the fact that my shoulder blades can protrude so far out they look like mini wings.

most of my joints click, and i apparently now have flat feet which causes feet pain. sharp twinges now and again. this doesn't quite account for the sore skin i get but does explain the rib popping out of place. also this stimulated a memory of my hips dislocating (on 2 occasions). they never dislocated fully but started to do something they shouldn't while i was stretching during a gymnastics class. painful at the time but i forgot about it totally until sitting with the doc in her office. helpful tip:if you can put stretch down and put your hands flat on the floor while keeping your legs straight, don't go further than that. :)

anyway what can be done? swimming and cycling are the best forms of exercise for me to build up cardiovascular strength, and build up the muscles in my back to help posture. the gist of it is there is a problem with the collagen holding the joints together. by strengthening the muscles either side of the spine, i should minimise bad things happening.

"basically i'm stuffed?" i asked, regarding treatment. she agreed saying that other than taking painkillers, if i know i'm going to be doing more than average physical work, and light exercise there's not a lot than can be done. i got a leaflet with information about joint hypermobility.

i think i am done with doctors. maybe i'll go to a well known homeopathic doc if things come up, or an osteopath to put things back in place. other than that, just carry on regardless.